Varaico: Literature-Extracted Genetic Variants

Gene:GDF5
Variant:p.L311P

GDF5

218 papers

RefSeq Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activat...

Pfam Domains

TGFb_propeptideaa 144–345UCSCTGF-beta propeptide
TGF_betaaa 399–500UCSCTransforming growth factor beta like domain

Gene Aliases

HGNC Name

growth differentiation factor 5

HGNC Alias Symbols

CDMP1; BMP14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000557.5
p.L311P
c.932T>C
Surrounding Variants
1 paper
NM_000557.5
p.A315S
c.943G>T
2 papers
NM_000557.5
p.G319V
c.956G>T
1 paper
NM_000557.5
p.R301Q
c.902G>A
8 papers
NM_000557.5
p.R301*
c.901C>T
1 paper
NM_000557.5
p.F300L
c.900C>A
2 papers
NM_000557.5
p.W297_K298insC
c.889_893ins3
2 papers
NM_000557.5
p.L327V
c.979C>G
2 papers
NM_000557.5
p.W291*
c.873G>A
3 papers
NM_000557.5
p.W291*
c.872G>A
1 paper
NM_000557.5
p.D279_S289del11
c.835_866del33
1 paper
NM_000557.5
p.E338K
c.1012G>A
1 paper
NM_000557.5
p.K339T
c.1016A>C
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